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Structural variations refer to genomic alterations that involve changes in the DNA sequence, such as insertions, deletions, inversions, duplications, and translocations. These variations can have significant implications for human health and disease. This mini review aims to provide an overview of structural variations, highlighting their types, prevalence, mechanisms of formation, and impact on phenotypic diversity and disease susceptibility. The review begins by defining structural variations and their classification based on size and genomic location. It then explores the various mechanisms that contribute to the formation of these variations, including errors in DNA replication, recombination events, and mobile genetic elements. The review further discusses the role of structural variations in evolutionary processes and their association with genetic disorders and complex diseases. Additionally, the use of advanced genomic technologies, such as next-generation sequencing and array-based methods, in detecting and characterizing structural variations is explored. The importance of understanding structural variations in personalized medicine and clinical genetics is emphasized. Furthermore, the review addresses the challenges and future prospects in the field of structural variations research. In conclusion, a comprehensive understanding of structural variations is crucial for unraveling the complexity of the human genome, improving disease diagnostics, and advancing precision medicine.
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